ORPHA:250989
1q21.1 microdeletion syndrome
Synonyms: Del(1)(q21) · Monosomy 1q21.1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 1q21.1 microdeletion syndrome | Del(1)(q21) · Monosomy 1q21.1 |
| fr | Syndrome de microdélétion 1q21.1 | Del(1)(q21) · Monosomie 1q21.1 |
| de | Mikrodeletionssyndrom 1q21.1 | Del(1)(q21) · Monosomie 1q21.1 |
| es | Síndrome de microdeleción 1q21.1 | Del(1)(q21) · Monosomía 1q21.1 |
| it | Sindrome da microdelezione 1q21.1 | Del(1)(q21) · Monosomia 1q21.1 |
| nl | 1q21.1-microdeletiesyndroom | Del(1)(q21) · Monosomie 1q21.1 |
| pt | Síndrome de microdeleção 1q21.1 | Monossomia 1q21.1 |
| pl | Zespół mikrodelecji 1q21.1 | Del(1)(q21) · Monosomia 1q21.1 |
| cs | Syndrom mikrodelece 1q21.1 | Del(1)(q21) · Monozomie 1q21.1 |
| uk | Синдром мікроделеції 1q21.1 | Del(1)(q21) · Моносомія 1q21.1 |
| zh | 染色体1q21.1微缺失综合征 | 1q21.1单体 |
| tr | 1q21.1 mikrodelesyon sendromu | Del (1) (q21) · Monozomi 1q21.1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612474 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.10 | NTBT | index | validated |
| MONDO | 0012914 | E | validated | |
| MeSH | C567291 | E | validated | |
| UMLS | C2675897 | E | validated | |
| GARD | 10813 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:262001Partial deletion of the long arm of chromosome 1 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
47 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000414 | Bulbous nose | |
| HP:0000490 | Deeply set eye | |
| HP:0000286 | Epicanthus | |
| HP:0002007 | Frontal bossing | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0001249 | Intellectual disability | |
| HP:0000343 | Long philtrum | |
| HP:0000252 | Microcephaly | |
| HP:0004322 | Short stature | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0010296 | Ankyloglossia | |
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0011304 | Broad thumb | |
| HP:0000518 | Cataract | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0000716 | Depression | |
| HP:0001508 | Failure to thrive | |
| HP:0001829 | Foot polydactyly | |
| HP:0001161 | Hand polydactyly | |
| HP:0008499 | High hypermetropia | |
| HP:0000238 | Hydrocephalus | |
| HP:0000126 | Hydronephrosis | |
| HP:0001252 | Hypotonia | |
| HP:0000023 | Inguinal hernia | |
| HP:0011611 | Interrupted aortic arch | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000612 | Iris coloboma | |
| HP:0001382 | Joint hypermobility | |
| HP:0000568 | Microphthalmia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0100753 | Schizophrenia | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001773 | Short foot | |
| HP:0002360 | Sleep abnormality | |
| HP:0000486 | Strabismus | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001770 | Toe syndactyly | |
| HP:0000076 | Vesicoureteral reflux | |
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/250989
- This record as JSON: /data/d/250989.json